← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-201488887-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201488887&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201488887,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004078.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "NM_004078.3",
"protein_id": "NP_004069.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340006.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004078.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000340006.7",
"protein_id": "ENSP00000345079.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004078.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340006.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.377T>C",
"hgvs_p": null,
"transcript": "ENST00000532313.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532313.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.3613T>C",
"hgvs_p": null,
"transcript": "ENST00000533402.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533402.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "NM_001193571.2",
"protein_id": "NP_001180500.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193571.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "NM_001193572.2",
"protein_id": "NP_001180501.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193572.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000367306.5",
"protein_id": "ENSP00000356275.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367306.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000532460.5",
"protein_id": "ENSP00000434147.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532460.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000533432.5",
"protein_id": "ENSP00000436792.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533432.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905417.1",
"protein_id": "ENSP00000575476.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905417.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905419.1",
"protein_id": "ENSP00000575478.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905419.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905420.1",
"protein_id": "ENSP00000575479.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905420.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905421.1",
"protein_id": "ENSP00000575480.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905421.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905423.1",
"protein_id": "ENSP00000575482.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905423.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905424.1",
"protein_id": "ENSP00000575483.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905424.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905425.1",
"protein_id": "ENSP00000575484.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905425.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905426.1",
"protein_id": "ENSP00000575485.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905426.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000915182.1",
"protein_id": "ENSP00000585241.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 193,
"cds_start": 379,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915182.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000967210.1",
"protein_id": "ENSP00000637269.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 189,
"cds_start": 379,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967210.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "NM_001193570.2",
"protein_id": "NP_001180499.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 187,
"cds_start": 379,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193570.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000905418.1",
"protein_id": "ENSP00000575477.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 187,
"cds_start": 379,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905418.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.292T>C",
"hgvs_p": "p.Tyr98His",
"transcript": "ENST00000905422.1",
"protein_id": "ENSP00000575481.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 164,
"cds_start": 292,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905422.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Tyr94His",
"transcript": "ENST00000526723.5",
"protein_id": "ENSP00000436491.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 160,
"cds_start": 280,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526723.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000531916.5",
"protein_id": "ENSP00000432110.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 153,
"cds_start": 379,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531916.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Tyr90His",
"transcript": "ENST00000524951.5",
"protein_id": "ENSP00000437218.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 152,
"cds_start": 268,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524951.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.29-4149T>C",
"hgvs_p": null,
"transcript": "ENST00000526256.5",
"protein_id": "ENSP00000483864.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 17,
"cds_start": null,
"cds_end": null,
"cds_length": 54,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526256.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.434T>C",
"hgvs_p": null,
"transcript": "ENST00000458271.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000458271.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.434T>C",
"hgvs_p": null,
"transcript": "ENST00000527573.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000527573.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.2824T>C",
"hgvs_p": null,
"transcript": "ENST00000527662.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527662.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.462T>C",
"hgvs_p": null,
"transcript": "ENST00000529975.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000529975.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.321T>C",
"hgvs_p": null,
"transcript": "ENST00000530120.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000530120.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.321T>C",
"hgvs_p": null,
"transcript": "ENST00000533188.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533188.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.168-3511T>C",
"hgvs_p": null,
"transcript": "ENST00000526317.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526317.5"
}
],
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"dbsnp": "rs1191183763",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8365316390991211,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.822,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.282,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004078.3",
"gene_symbol": "CSRP1",
"hgnc_id": 2469,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}